filamin A
עודכן לאחרונה 11 אפריל 2023
עומד בהנחיות העריכה של Patient
- הורדהורד
- שתף
- Language
- דיון
- גרסת שמע
- הוסף למקורות מועדפים בגוגל
The FLNA gene provides instructions for producing the protein filamin A, which helps build cells' extensive internal network of protein filaments called the cytoskeleton. The cytoskeleton gives structure to cells and allows them the flexibility to change shape. The cytoskeleton is also important for certain processes inside the cells, such as the movement of proteins within the cell and the breakdown of unneeded proteins. Filamin A primarily attaches (binds) to another protein called actin and helps it form the branching network of filaments that make up the cytoskeleton.
Normal function
The FLNA gene provides instructions for producing the protein filamin A, which helps build cells' extensive internal network of protein filaments called the cytoskeleton. The cytoskeleton gives structure to cells and allows them the flexibility to change shape. The cytoskeleton is also important for certain processes inside the cells, such as the movement of proteins within the cell and the breakdown of unneeded proteins. Filamin A primarily attaches (binds) to another protein called actin and helps it form the branching network of filaments that make up the cytoskeleton.
Filamin A can also bind to many other proteins in the cell to carry out various functions, including the attachment of cells to one another (cell adhesion), cell movement (migration), determination of cell shape, the relay of signals within cells, and cell survival. These numerous functions involving filamin A have been found to play roles in regulating skeletal and brain development, the formation of heart tissue and blood vessels, blood clotting, skin elasticity, the maintenance of lung tissue, and the function of the digestive system.
Filamin A is also involved in the organisation of the extracellular matrix, which is the lattice of proteins and other molecules outside the cell. Filamin A binds to proteins called integrins, which span the cell membrane and anchor cells to the extracellular matrix. Through this binding, cells are correctly positioned and signals can be exchanged between the cell and the extracellular matrix.
Conditions referring to this gene or chromosome
Other names
ABP-280
ABPX
actin-binding protein 280
DKFZp434P031
filamin 1
filamin A, alpha
filamin A, alpha (actin binding protein 280)
FLN
FLN1
FLNA_HUMAN
Related patient information and medicines
Patient information leaflet
סטרפ A
Strep A, או Group A streptococcus, is a common type of bacteria, which has been recognised as a cause of infections for many years. Most Group A streptococcus infections are mild, but in rare cases, these can cause serious illness and even death. Strep A, or Group A streptococcus (GAS), מטופל? a type of bacteria, with the scientific name Streptococcus.
Patient information leaflet
שיעול ויראלי
Most coughs are caused by viral infections and usually soon go. This leaflet gives some tips on what to do and discusses which symptoms may indicate a more serious illness. Viral infections commonly affect the throat (larynx), the main airway ... See our separate editorial content called Coronavirus: what are asymptomatic and mild COVID-19? and.
Patient information leaflet
מחשבון ביוץ
Open the ovulation calculator How does the ovulation calculator work. The ovulation calculator uses the date of your last period and your average cycle length to estimate your fertile window — the days when you're most likely to conceive. Ovulation usually happens about 14 days before your next period. By predicting this window, the tool helps.
Patient information leaflet
רשלנות רפואית
Has not acted fairly. Has given you a poor service and not put things right. There is a separate Health Service Ombudsman for England, Scotland, Wales and Northern Ireland. Governing bodies for health professionals Healthcare professionals are regulated by governing bodies, which have the power to prevent them from practising if they are unfit to.
Medicine leaflet
הכנות פלואוריד למניעת עששת שיניים
Fluoride preparations help to prevent tooth decay. Before giving a fluoride supplement (tablets or drops) to your child, make sure your doctor/dentist kno... About fluoride preparations Used for Prevention of tooth decay Also called Duraphat®; En-De-Kay®; Fluor-a-day®; FluoriGard®; Fluoritop®; oraNurse® Available as Tablets, oral drops, mouthwash.
קריאה נוספת והפניות
- filamin A; MedlinePlus, National Library of Medicine.
- Brunetti-Pierri N, Torrado M, Fernandez Mdel C, Tello AM, Arberas CL, Cardinale A, Piccolo P, Bacino CA. Terminal osseous dysplasia with pigmentary defects (TODPD) due to a recurrent filamin A (FLNA) mutation. Mol Genet Genomic Med. 2014 Nov;2(6):467-71. doi: 10.1002/mgg3.90. Epub 2014 Aug 8.
- Duval D, Lardeux A, Le Tourneau T, Norris RA, Markwald RR, Sauzeau V, Probst V, Le Marec H, Levine R, Schott JJ, Merot J. Valvular dystrophy associated filamin A mutations reveal a new role of its first repeats in small-GTPase regulation. Biochim Biophys Acta. 2014 Feb;1843(2):234-44. doi: 10.1016/j.bbamcr.2013.10.022. Epub 2013 Nov 4.
- Gargiulo A, Auricchio R, Barone MV, Cotugno G, Reardon W, Milla PJ, Ballabio A, Ciccodicola A, Auricchio A. Filamin A is mutated in X-linked chronic idiopathic intestinal pseudo-obstruction with central nervous system involvement. Am J Hum Genet. 2007 Apr;80(4):751-8. doi: 10.1086/513321. Epub 2007 Feb 26.
- Jenkins ZA, Macharg A, Chang CY, van Kogelenberg M, Morgan T, Frentz S, Wei W, Pilch J, Hannibal M, Foulds N, McGillivray G, Leventer RJ, Garcia-Minaur S, Sugito S, Nightingale S, Markie DM, Dudding T, Kapur RP, Robertson SP. Differential regulation of two FLNA transcripts explains some of the phenotypic heterogeneity in the loss-of-function filaminopathies. Hum Mutat. 2018 Jan;39(1):103-113. doi: 10.1002/humu.23355. Epub 2017 Nov 2.
- Kapur RP, Robertson SP, Hannibal MC, Finn LS, Morgan T, van Kogelenberg M, Loren DJ. Diffuse abnormal layering of small intestinal smooth muscle is present in patients with FLNA mutations and x-linked intestinal pseudo-obstruction. Am J Surg Pathol. 2010 Oct;34(10):1528-43. doi: 10.1097/PAS.0b013e3181f0ae47.
- Kyndt F, Gueffet JP, Probst V, Jaafar P, Legendre A, Le Bouffant F, Toquet C, Roy E, McGregor L, Lynch SA, Newbury-Ecob R, Tran V, Young I, Trochu JN, Le Marec H, Schott JJ. Mutations in the gene encoding filamin A as a cause for familial cardiac valvular dystrophy. Circulation. 2007 Jan 2;115(1):40-9. doi: 10.1161/CIRCULATIONAHA.106.622621. Epub 2006 Dec 26.
- Lange M, Kasper B, Bohring A, Rutsch F, Kluger G, Hoffjan S, Spranger S, Behnecke A, Ferbert A, Hahn A, Oehl-Jaschkowitz B, Graul-Neumann L, Diepold K, Schreyer I, Bernhard MK, Mueller F, Siebers-Renelt U, Beleza-Meireles A, Uyanik G, Janssens S, Boltshauser E, Winkler J, Schuierer G, Hehr U. 47 patients with FLNA associated periventricular nodular heterotopia. Orphanet J Rare Dis. 2015 Oct 15;10:134. doi: 10.1186/s13023-015-0331-9.
- Lu J, Tiao G, Folkerth R, Hecht J, Walsh C, Sheen V. Overlapping expression of ARFGEF2 and Filamin A in the neuroependymal lining of the lateral ventricles: insights into the cause of periventricular heterotopia. J Comp Neurol. 2006 Jan 20;494(3):476-84. doi: 10.1002/cne.20806.
- Moro F, Carrozzo R, Veggiotti P, Tortorella G, Toniolo D, Volzone A, Guerrini R. Familial periventricular heterotopia: missense and distal truncating mutations of the FLN1 gene. Neurology. 2002 Mar 26;58(6):916-21. doi: 10.1212/wnl.58.6.916.
- Moutton S, Fergelot P, Naudion S, Cordier MP, Sole G, Guerineau E, Hubert C, Rooryck C, Vuillaume ML, Houcinat N, Deforges J, Bouron J, Deves S, Le Merrer M, David A, Genevieve D, Giuliano F, Journel H, Megarbane A, Faivre L, Chassaing N, Francannet C, Sarrazin E, Stattin EL, Vigneron J, Leclair D, Abadie C, Sarda P, Baumann C, Delrue MA, Arveiler B, Lacombe D, Goizet C, Coupry I. Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum. J Hum Genet. 2016 Aug;61(8):693-9. doi: 10.1038/jhg.2016.37. Epub 2016 May 19.
- Parrini E, Ramazzotti A, Dobyns WB, Mei D, Moro F, Veggiotti P, Marini C, Brilstra EH, Dalla Bernardina B, Goodwin L, Bodell A, Jones MC, Nangeroni M, Palmeri S, Said E, Sander JW, Striano P, Takahashi Y, Van Maldergem L, Leonardi G, Wright M, Walsh CA, Guerrini R. Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations. Brain. 2006 Jul;129(Pt 7):1892-906. doi: 10.1093/brain/awl125. Epub 2006 May 9.
- Robertson SP, Thompson S, Morgan T, Holder-Espinasse M, Martinot-Duquenoy V, Wilkie AO, Manouvrier-Hanu S. Postzygotic mutation and germline mosaicism in the otopalatodigital syndrome spectrum disorders. Eur J Hum Genet. 2006 May;14(5):549-54. doi: 10.1038/sj.ejhg.5201586.
- Robertson SP, Twigg SR, Sutherland-Smith AJ, Biancalana V, Gorlin RJ, Horn D, Kenwrick SJ, Kim CA, Morava E, Newbury-Ecob R, Orstavik KH, Quarrell OW, Schwartz CE, Shears DJ, Suri M, Kendrick-Jones J, Wilkie AO; OPD-spectrum Disorders Clinical Collaborative Group. Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. Nat Genet. 2003 Apr;33(4):487-91. doi: 10.1038/ng1119. Epub 2003 Mar 3.
- Robertson SP. Otopalatodigital syndrome spectrum disorders: otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles syndrome. Eur J Hum Genet. 2007 Jan;15(1):3-9. doi: 10.1038/sj.ejhg.5201654. Epub 2006 Aug 23.
- Sasaki E, Byrne AT, Phelan E, Cox DW, Reardon W. A review of filamin A mutations and associated interstitial lung disease. Eur J Pediatr. 2019 Feb;178(2):121-129. doi: 10.1007/s00431-018-3301-0. Epub 2018 Dec 13.
- Sheen VL, Dixon PH, Fox JW, Hong SE, Kinton L, Sisodiya SM, Duncan JS, Dubeau F, Scheffer IE, Schachter SC, Wilner A, Henchy R, Crino P, Kamuro K, DiMario F, Berg M, Kuzniecky R, Cole AJ, Bromfield E, Biber M, Schomer D, Wheless J, Silver K, Mochida GH, Berkovic SF, Andermann F, Andermann E, Dobyns WB, Wood NW, Walsh CA. Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females. Hum Mol Genet. 2001 Aug 15;10(17):1775-83. doi: 10.1093/hmg/10.17.1775.
- Sheen VL, Jansen A, Chen MH, Parrini E, Morgan T, Ravenscroft R, Ganesh V, Underwood T, Wiley J, Leventer R, Vaid RR, Ruiz DE, Hutchins GM, Menasha J, Willner J, Geng Y, Gripp KW, Nicholson L, Berry-Kravis E, Bodell A, Apse K, Hill RS, Dubeau F, Andermann F, Barkovich J, Andermann E, Shugart YY, Thomas P, Viri M, Veggiotti P, Robertson S, Guerrini R, Walsh CA. Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome. Neurology. 2005 Jan 25;64(2):254-62. doi: 10.1212/01.WNL.0000149512.79621.DF.
- Shelmerdine SC, Semple T, Wallis C, Aurora P, Moledina S, Ashworth MT, Owens CM. Filamin A (FLNA) mutation-A newcomer to the childhood interstitial lung disease (ChILD) classification. Pediatr Pulmonol. 2017 Oct;52(10):1306-1315. doi: 10.1002/ppul.23695. Epub 2017 Sep 12.
- Sun Y, Almomani R, Aten E, Celli J, van der Heijden J, Venselaar H, Robertson SP, Baroncini A, Franco B, Basel-Vanagaite L, Horii E, Drut R, Ariyurek Y, den Dunnen JT, Breuning MH. Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene. Am J Hum Genet. 2010 Jul 9;87(1):146-53. doi: 10.1016/j.ajhg.2010.06.008.
- Wade EM, Halliday BJ, Jenkins ZA, O'Neill AC, Robertson SP. The X-linked filaminopathies: Synergistic insights from clinical and molecular analysis. Hum Mutat. 2020 May;41(5):865-883. doi: 10.1002/humu.24002. Epub 2020 Mar 11.
הצטרפו לשיחה
שתפו את מחשבותיכם או חוויותיכם עם אחרים ב קהילות המטופלים שלנו.
שאלו, שתפו, התחברו.
עיין בדיונים, שאל שאלות ושתף חוויות במאות נושאים בריאותיים.
הירשמו לניוזלטר של פיישנט
המנה השבועית שלך של עצות בריאות ברורות ואמינות - נכתבה כדי לעזור לך להרגיש מעודכן, בטוח ובשליטה.
על ידי הרשמה אתה מקבל את שלנו מדיניות הפרטיות שלנו. באפשרותך לבטל את המנוי בכל עת. לעולם לא נמכור את הנתונים שלך.